Results 81 to 90 of about 78,625 (277)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Cluster boundary layer measurements and optical observations at magnetically conjugate sites [PDF]

Annales Geophysicae, 2001
The Cluster spacecraft experienced several boundary layer encounters when flying outbound from the magnetosphere to the magnetosheath in the dusk sector on 14 January 2001.
J. Moen, J. Moen, J. A. Holtet, A. Pedersen, B. Lybekk, K. Svenes, K. Oksavik, W. F. Denig, E. Lucek, F. Søraas, M. André   +10 more
doaj   +1 more source

On ratios of Petersson norms for Yoshida lifts [PDF]

, 2013
We prove an algebraicity property for a certain ratio of Petersson norms associated to a Siegel cusp form of degree 2 (and arbitrary level) whose adelization generates a weak endoscopic lift.
Saha, Abhishek
core  

Sign changes of Fourier coefficients of Siegel cusp forms of degree two on Hecke congruence subgroups

, 2017
In this article, the authors give a lower bound on the number of sign changes of Fourier coefficients of a non-zero degree two Siegel cusp form of even integral weight on a Hecke congruence subgroup.
Gun, S., Sengupta, J.
core   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Co-existing Dental Anomalies - Talon Cusp and Supernumerary Tooth - A Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2004
Supernumerary tooth is a common dental anomaly present in both maxilla and mandible. It may manifest as an isolated dental anomaly or as a feature of a syndrome. Talon cusp is another dental anomaly and presents as an accessory cusp in both deciduous and
Elizabeth Joshua, S Nalinkumar, M Umadevi, K Ranganathan, T R Saraswathi   +4 more
doaj  

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

What Do Large Language Models Know About Materials?

Advanced Engineering Materials, EarlyView.
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer, Thomas Wallmersperger, Gianaurelio Cuniberti   +2 more
wiley   +1 more source

NFDI MatWerk Ontology (MWO): A BFO‐Compliant Ontology for Research Data Management in Materials Science and Engineering

Advanced Engineering Materials, EarlyView.
This article presents the NFDI‐MatWerk Ontology (MWO), a Basic Formal Ontology‐based framework for interoperable research data management in materials science and engineering (MSE). Covering consortium structures, research data management resources, services, and instruments, MWO enables semantic integration, Findable, Accessible, Interoperable, and ...
Hossein Beygi Nasrabadi, Ebrahim Norouzi, Kostiantyn Hubaiev, Jörg Waitelonis, Harald Sack   +4 more
wiley   +1 more source